Growth hormone deficiency is a congenital or an acquired growth hormone axis disruption in the higher brain, hypothalamus or pituitary which results in short stature.
It may occur at any age.
Short stature is often the only feature present in patients with growth hormone deficiency and other causes of subnormal growth rate.
Etiology may be congenital conditions (eg defective pituitary development that leads to pituitary aplasia, empty sella, encephalocele, midline defects) or acquired conditions (eg tumors of the hypothalamic-pituitary region, cranial irradiation, infiltrative disease).

Differential Diagnosis

Endocrine Causes

  • Growth hormone resistance
  • Hypothyroidism
  • Cushing’s syndrome
  • Parathyroid or vitamin D disorders
  • Delayed puberty (GnRH deficiency)

Non-endocrine Causes

  • Syndromes (Turner, Noonan, Russell-Silver, etc)
  • Skeletal dysplasia
  • Chronic disease, inflammation
  • Psychosocial short stature
  • Constitutional delay of growth and puberty
  • Malnutrition
  • Intrauterine growth retardation (IUGR), small for gestational age (SGA)

Insulin-like Growth Factor (IGF) Deficiency

  • May be caused by GH insensitivity, IGF resistance, growth hormone deficiency (GHD) secondary to hypothalamic dysfunction or pituitary GHD

Idiopathic Short Stature (ISS)

  • Genetic and non-genetic short stature manifested as height of >2.25 SD below the corresponding mean height for age, sex and population group, with constitutional delayed growth and maturation
  • Systemic, endocrine, nutritional and chromosomal abnormalities, especially GHD should have been ruled out
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